Clinical exome reanalysis (sequencing)
Code: 3367
The availability and turnaround time of this test should be confirmed with the unit before collection.
- Method
- Next-generation sequencing (NGS)
- Collection requirements
- EDTA: Blood (20 mL) Note: Clinical history and family history are mandatory.
- Sample stability
- Refrigerated at 2-8 °C
- Turnaround time
- 78 working days
- Preparation and notes
- IMPORTANT: 1. Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday. 2. The questionnaire completed by the requesting physician and the informed consent signed by the patient must be sent. 3. Clinical history and family history are mandatory.
Specialties
- Pediatrics
- Neurology
- Rare Diseases
- Prenatal Diagnosis and Obstetrics
- Infertility and Reproductive Medicine
- Endocrinology/Metabolic Diseases
- Hematology/Hematologic Oncology
- Cardiology
- Ophthalmology
- Gastroenterology
- Pulmonology
- Nephrology/Urology
- Immunology
- Otorhinolaryngology (ENT)
- Pharmacogenetics
- Obesity
- Dentistry